Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
21 | g.43417020G>A | CA410606703 | SIK1 | c.2074C>T (p.Pro692Ser) c.1927C>T (p.Pro643Ser) | dbSNP |
21 | g.43417020G>C | CA410606704 | SIK1 | c.2074C>G (p.Pro692Ala) c.1927C>G (p.Pro643Ala) | ClinVar dbSNP |
21 | g.43417020G= | CA2391216288 | SIK1 | c.2074C= (p.Pro692=) c.1927C= (p.Pro643=) | |
21 | g.43417020G>T | CA410606705 | SIK1 | c.2074C>A (p.Pro692Thr) c.1927C>A (p.Pro643Thr) | |
21 | g.43417021G>T | CA2573157454 | SIK1 | c.2073C>A (p.Gly691=) c.1926C>A (p.Gly642=) | ClinVar dbSNP |
21 | g.43417022C>A | CA410606707 | SIK1 | c.2072G>T (p.Gly691Val) c.1925G>T (p.Gly642Val) | |
21 | g.43417022C= | CA2391216289 | SIK1 | c.2072G= (p.Gly691=) c.1925G= (p.Gly642=) | |
21 | g.43417022C>G | CA410606706 | SIK1 | c.2072G>C (p.Gly691Ala) c.1925G>C (p.Gly642Ala) | |
21 | g.43417022C>T | CA321324493 | SIK1 | c.2072G>A (p.Gly691Asp) c.1925G>A (p.Gly642Asp) | ClinVar dbSNP gnomAD v4 |
21 | g.43417023C>A | CA410606708 | SIK1 | c.2071G>T (p.Gly691Cys) c.1924G>T (p.Gly642Cys) | |
21 | g.43417023C>G | CA410606709 | SIK1 | c.2071G>C (p.Gly691Arg) c.1924G>C (p.Gly642Arg) | |
21 | g.43417023C>T | CA410606710 | SIK1 | c.2071G>A (p.Gly691Ser) c.1924G>A (p.Gly642Ser) | |
21 | g.43417024A>C | CA410606711 | SIK1 | c.2070T>G (p.Asp690Glu) c.1923T>G (p.Asp641Glu) | |
21 | g.43417024A>T | CA410606712 | SIK1 | c.2070T>A (p.Asp690Glu) c.1923T>A (p.Asp641Glu) | |
21 | g.43417025T>A | CA410606713 | SIK1 | c.2069A>T (p.Asp690Val) c.1922A>T (p.Asp641Val) | |
21 | g.43417025T>C | CA410606714 | SIK1 | c.2069A>G (p.Asp690Gly) c.1922A>G (p.Asp641Gly) | |
21 | g.43417025T>G | CA410606715 | SIK1 | c.2069A>C (p.Asp690Ala) c.1922A>C (p.Asp641Ala) | |
21 | g.43417026C>A | CA410606716 | SIK1 | c.2068G>T (p.Asp690Tyr) c.1921G>T (p.Asp641Tyr) | |
21 | g.43417026C>G | CA410606717 | SIK1 | c.2068G>C (p.Asp690His) c.1921G>C (p.Asp641His) | |
21 | g.43417026C>T | CA410606718 | SIK1 | c.2068G>A (p.Asp690Asn) c.1921G>A (p.Asp641Asn) | |
21 | g.43417027A>C | CA410606719 | SIK1 | c.2067T>G (p.Cys689Trp) c.1920T>G (p.Cys640Trp) | gnomAD v4 |
21 | g.43417027A>T | CA410606720 | SIK1 | c.2067T>A (p.Cys689Ter) c.1920T>A (p.Cys640Ter) | |
21 | g.43417028C>A | CA410606722 | SIK1 | c.2066G>T (p.Cys689Phe) c.1919G>T (p.Cys640Phe) | |
21 | g.43417028C>G | CA410606723 | SIK1 | c.2066G>C (p.Cys689Ser) c.1919G>C (p.Cys640Ser) | |
21 | g.43417028C>T | CA410606721 | SIK1 | c.2066G>A (p.Cys689Tyr) c.1919G>A (p.Cys640Tyr) | |
21 | g.43417029A= | CA2391216290 | SIK1 | c.2065T= (p.Cys689=) c.1918T= (p.Cys640=) | |
21 | g.43417029A>C | CA410606724 | SIK1 | c.2065T>G (p.Cys689Gly) c.1918T>G (p.Cys640Gly) | |
21 | g.43417029A>G | CA410606725 | SIK1 | c.2065T>C (p.Cys689Arg) c.1918T>C (p.Cys640Arg) | |
21 | g.43417029A>T | CA321324496 | SIK1 | c.2065T>A (p.Cys689Ser) c.1918T>A (p.Cys640Ser) | ClinVar dbSNP |
21 | g.43417031G>A | CA410606726 | SIK1 | c.2063C>T (p.Pro688Leu) c.1916C>T (p.Pro639Leu) | |
21 | g.43417031G>C | CA410606727 | SIK1 | c.2063C>G (p.Pro688Arg) c.1916C>G (p.Pro639Arg) | |
21 | g.43417031G>T | CA410606728 | SIK1 | c.2063C>A (p.Pro688His) c.1916C>A (p.Pro639His) | |
21 | g.43417032G>A | CA410606729 | SIK1 | c.2062C>T (p.Pro688Ser) c.1915C>T (p.Pro639Ser) | ClinVar |
21 | g.43417032G>C | CA410606730 | SIK1 | c.2062C>G (p.Pro688Ala) c.1915C>G (p.Pro639Ala) | ClinVar dbSNP |
21 | g.43417032G= | CA2391216291 | SIK1 | c.2062C= (p.Pro688=) c.1915C= (p.Pro639=) | |
21 | g.43417032G>T | CA321324499 | SIK1 | c.2062C>A (p.Pro688Thr) c.1915C>A (p.Pro639Thr) | dbSNP |
21 | g.43417034G>A | CA410606731 | SIK1 | c.2060C>T (p.Ala687Val) c.1913C>T (p.Ala638Val) | ClinVar dbSNP |
21 | g.43417034G>C | CA410606732 | SIK1 | c.2060C>G (p.Ala687Gly) c.1913C>G (p.Ala638Gly) | |
21 | g.43417034G= | CA2391216292 | SIK1 | c.2060C= (p.Ala687=) c.1913C= (p.Ala638=) | |
21 | g.43417034G>T | CA410606733 | SIK1 | c.2060C>A (p.Ala687Asp) c.1913C>A (p.Ala638Asp) | dbSNP |
21 | g.43417035C>A | CA410606734 | SIK1 | c.2059G>T (p.Ala687Ser) c.1912G>T (p.Ala638Ser) | ClinVar |
21 | g.43417035C= | CA2391216293 | SIK1 | c.2059G= (p.Ala687=) c.1912G= (p.Ala638=) | |
21 | g.43417035C>G | CA410606735 | SIK1 | c.2059G>C (p.Ala687Pro) c.1912G>C (p.Ala638Pro) | |
21 | g.43417035C>T | CA321324503 | SIK1 | c.2059G>A (p.Ala687Thr) c.1912G>A (p.Ala638Thr) | ClinVar dbSNP gnomAD v4 |
21 | g.43417036G>A | CA749584956 | SIK1 | c.2058C>T (p.Ile686=) c.1911C>T (p.Ile637=) | ClinVar dbSNP |
21 | g.43417036G>C | CA410606736 | SIK1 | c.2058C>G (p.Ile686Met) c.1911C>G (p.Ile637Met) | |
21 | g.43417036G= | CA2391216294 | SIK1 | c.2058C= (p.Ile686=) c.1911C= (p.Ile637=) | |
21 | g.43417036G>T | CA2391216295 | SIK1 | c.2058C>A (p.Ile686=) c.1911C>A (p.Ile637=) | dbSNP |
21 | g.43417037A>C | CA410606737 | SIK1 | c.2057T>G (p.Ile686Ser) c.1910T>G (p.Ile637Ser) | |
21 | g.43417037A>G | CA410606738 | SIK1 | c.2057T>C (p.Ile686Thr) c.1910T>C (p.Ile637Thr) | |
21 | g.43417037A>T | CA410606739 | SIK1 | c.2057T>A (p.Ile686Asn) c.1910T>A (p.Ile637Asn) | |
21 | g.43417038T>A | CA410606740 | SIK1 | c.2056A>T (p.Ile686Phe) c.1909A>T (p.Ile637Phe) | |
21 | g.43417038T>C | CA410606741 | SIK1 | c.2056A>G (p.Ile686Val) c.1909A>G (p.Ile637Val) | |
21 | g.43417038T>G | CA410606742 | SIK1 | c.2056A>C (p.Ile686Leu) c.1909A>C (p.Ile637Leu) | |
21 | g.43417039C= | CA2391216296 | SIK1 | c.2055G= (p.Val685=) c.1908G= (p.Val636=) | |
21 | g.43417039C>T | CA2391216297 | SIK1 | c.2055G>A (p.Val685=) c.1908G>A (p.Val636=) | dbSNP |
21 | g.43417040A>C | CA410606743 | SIK1 | c.2054T>G (p.Val685Gly) c.1907T>G (p.Val636Gly) | |
21 | g.43417040A>G | CA410606744 | SIK1 | c.2054T>C (p.Val685Ala) c.1907T>C (p.Val636Ala) | |
21 | g.43417040A>T | CA410606745 | SIK1 | c.2054T>A (p.Val685Glu) c.1907T>A (p.Val636Glu) | |
21 | g.43417041C>A | CA410606747 | SIK1 | c.2053G>T (p.Val685Leu) c.1906G>T (p.Val636Leu) | COSMIC |
21 | g.43417041C= | CA2391216298 | SIK1 | c.2053G= (p.Val685=) c.1906G= (p.Val636=) | |
21 | g.43417041C>G | CA410606748 | SIK1 | c.2053G>C (p.Val685Leu) c.1906G>C (p.Val636Leu) | |
21 | g.43417041C>T | CA410606746 | SIK1 | c.2053G>A (p.Val685Met) c.1906G>A (p.Val636Met) | ClinVar dbSNP |
21 | g.43417042A= | CA2391216299 | SIK1 | c.2052T= (p.Phe684=) c.1905T= (p.Phe635=) | |
21 | g.43417042A>C | CA321324505 | SIK1 | c.2052T>G (p.Phe684Leu) c.1905T>G (p.Phe635Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
21 | g.43417042A>G | CA2499225950 | SIK1 | c.2052T>C (p.Phe684=) c.1905T>C (p.Phe635=) | ClinVar dbSNP |
21 | g.43417042A>T | CA410606749 | SIK1 | c.2052T>A (p.Phe684Leu) c.1905T>A (p.Phe635Leu) | ClinVar dbSNP |
21 | g.43417043A>C | CA410606750 | SIK1 | c.2051T>G (p.Phe684Cys) c.1904T>G (p.Phe635Cys) | gnomAD v4 |
21 | g.43417043A>G | CA410606751 | SIK1 | c.2051T>C (p.Phe684Ser) c.1904T>C (p.Phe635Ser) | dbSNP |
21 | g.43417043A>T | CA410606752 | SIK1 | c.2051T>A (p.Phe684Tyr) c.1904T>A (p.Phe635Tyr) | |
21 | g.43417044A>C | CA410606755 | SIK1 | c.2050T>G (p.Phe684Val) c.1903T>G (p.Phe635Val) | gnomAD v4 |
21 | g.43417044A>G | CA410606754 | SIK1 | c.2050T>C (p.Phe684Leu) c.1903T>C (p.Phe635Leu) | |
21 | g.43417044A>T | CA410606753 | SIK1 | c.2050T>A (p.Phe684Ile) c.1903T>A (p.Phe635Ile) | |
21 | g.43417045C= | CA2391216300 | SIK1 | c.2049G= (p.Pro683=) c.1902G= (p.Pro634=) | |
21 | g.43417045C>T | CA321324508 | SIK1 | c.2049G>A (p.Pro683=) c.1902G>A (p.Pro634=) | ClinVar dbSNP gnomAD v4 |
21 | g.43417046G>A | CA321324511 | SIK1 | c.2048C>T (p.Pro683Leu) c.1901C>T (p.Pro634Leu) | ClinVar dbSNP gnomAD v4 |
21 | g.43417046G>C | CA410606756 | SIK1 | c.2048C>G (p.Pro683Arg) c.1901C>G (p.Pro634Arg) | |
21 | g.43417046G= | CA2391216301 | SIK1 | c.2048C= (p.Pro683=) c.1901C= (p.Pro634=) | |
21 | g.43417046G>T | CA321324516 | SIK1 | c.2048C>A (p.Pro683Gln) c.1901C>A (p.Pro634Gln) | dbSNP |
21 | g.43417047G>A | CA410606757 | SIK1 | c.2047C>T (p.Pro683Ser) c.1900C>T (p.Pro634Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
21 | g.43417047G>C | CA410606758 | SIK1 | c.2047C>G (p.Pro683Ala) c.1900C>G (p.Pro634Ala) | |
21 | g.43417047G= | CA2391216302 | SIK1 | c.2047C= (p.Pro683=) c.1900C= (p.Pro634=) | |
21 | g.43417047G>T | CA410606759 | SIK1 | c.2047C>A (p.Pro683Thr) c.1900C>A (p.Pro634Thr) | |
21 | g.43417048G>A | CA749584977 | SIK1 | c.2046C>T (p.Ala682=) c.1899C>T (p.Ala633=) | dbSNP |
21 | g.43417048G= | CA2391216303 | SIK1 | c.2046C= (p.Ala682=) c.1899C= (p.Ala633=) | |
21 | g.43417049G>A | CA410606760 | SIK1 | c.2045C>T (p.Ala682Val) c.1898C>T (p.Ala633Val) | ClinVar dbSNP |
21 | g.43417049G>C | CA410606762 | SIK1 | c.2045C>G (p.Ala682Gly) c.1898C>G (p.Ala633Gly) | |
21 | g.43417049G= | CA2391216304 | SIK1 | c.2045C= (p.Ala682=) c.1898C= (p.Ala633=) | |
21 | g.43417049G>T | CA410606761 | SIK1 | c.2045C>A (p.Ala682Asp) c.1898C>A (p.Ala633Asp) | |
21 | g.43417050C>A | CA410606763 | SIK1 | c.2044G>T (p.Ala682Ser) c.1897G>T (p.Ala633Ser) | |
21 | g.43417050C>G | CA410606764 | SIK1 | c.2044G>C (p.Ala682Pro) c.1897G>C (p.Ala633Pro) | |
21 | g.43417050C>T | CA410606765 | SIK1 | c.2044G>A (p.Ala682Thr) c.1897G>A (p.Ala633Thr) | gnomAD v3 gnomAD v4 |
21 | g.43417051A>C | CA2818014411 | SIK1 | c.2043T>G (p.Pro681=) c.1896T>G (p.Pro632=) | |
21 | g.43417052G>A | CA410606766 | SIK1 | c.2042C>T (p.Pro681Leu) c.1895C>T (p.Pro632Leu) | ClinVar dbSNP |
21 | g.43417052G>C | CA410606767 | SIK1 | c.2042C>G (p.Pro681Arg) c.1895C>G (p.Pro632Arg) | |
21 | g.43417052G>T | CA410606768 | SIK1 | c.2042C>A (p.Pro681His) c.1895C>A (p.Pro632His) | |
21 | g.43417053G>A | CA410606769 | SIK1 | c.2041C>T (p.Pro681Ser) c.1894C>T (p.Pro632Ser) | |
21 | g.43417053G>C | CA410606770 | SIK1 | c.2041C>G (p.Pro681Ala) c.1894C>G (p.Pro632Ala) | |
21 | g.43417053G>T | CA410606771 | SIK1 | c.2041C>A (p.Pro681Thr) c.1894C>A (p.Pro632Thr) | |
21 | g.43417055G>A | CA410606772 | SIK1 | c.2039C>T (p.Ala680Val) c.1892C>T (p.Ala631Val) | |
21 | g.43417055G>C | CA410606773 | SIK1 | c.2039C>G (p.Ala680Gly) c.1892C>G (p.Ala631Gly) | |
21 | g.43417055G>T | CA410606774 | SIK1 | c.2039C>A (p.Ala680Asp) c.1892C>A (p.Ala631Asp) | |
21 | g.43417056C>A | CA410606775 | SIK1 | c.2038G>T (p.Ala680Ser) c.1891G>T (p.Ala631Ser) | |
21 | g.43417056C= | CA2391216305 | SIK1 | c.2038G= (p.Ala680=) c.1891G= (p.Ala631=) | |
21 | g.43417056C>G | CA410606777 | SIK1 | c.2038G>C (p.Ala680Pro) c.1891G>C (p.Ala631Pro) | |
21 | g.43417056C>T | CA410606776 | SIK1 | c.2038G>A (p.Ala680Thr) c.1891G>A (p.Ala631Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
21 | g.43417057C= | CA2391216306 | SIK1 | c.2037G= (p.Pro679=) c.1890G= (p.Pro630=) | |
21 | g.43417057C>T | CA321324519 | SIK1 | c.2037G>A (p.Pro679=) c.1890G>A (p.Pro630=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
21 | g.43417058G>A | CA321324521 | SIK1 | c.2036C>T (p.Pro679Leu) c.1889C>T (p.Pro630Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
21 | g.43417058G>C | CA410606778 | SIK1 | c.2036C>G (p.Pro679Arg) c.1889C>G (p.Pro630Arg) | |
21 | g.43417058G= | CA2391216307 | SIK1 | c.2036C= (p.Pro679=) c.1889C= (p.Pro630=) | |
21 | g.43417058G>T | CA410606779 | SIK1 | c.2036C>A (p.Pro679Gln) c.1889C>A (p.Pro630Gln) | gnomAD v4 |
21 | g.43417059G>A | CA410606780 | SIK1 | c.2035C>T (p.Pro679Ser) c.1888C>T (p.Pro630Ser) | |
21 | g.43417059G>C | CA410606781 | SIK1 | c.2035C>G (p.Pro679Ala) c.1888C>G (p.Pro630Ala) | |
21 | g.43417059G>T | CA410606782 | SIK1 | c.2035C>A (p.Pro679Thr) c.1888C>A (p.Pro630Thr) | COSMIC |
21 | g.43417060C>A | CA321324524 | SIK1 | c.2034G>T (p.Gln678His) c.1887G>T (p.Gln629His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
21 | g.43417060C= | CA2391216308 | SIK1 | c.2034G= (p.Gln678=) c.1887G= (p.Gln629=) | |
21 | g.43417060C>G | CA410606783 | SIK1 | c.2034G>C (p.Gln678His) c.1887G>C (p.Gln629His) | |
21 | g.43417061T>A | CA410606784 | SIK1 | c.2033A>T (p.Gln678Leu) c.1886A>T (p.Gln629Leu) | |
21 | g.43417061T>C | CA410606785 | SIK1 | c.2033A>G (p.Gln678Arg) c.1886A>G (p.Gln629Arg) | |
21 | g.43417061T>G | CA321324527 | SIK1 | c.2033A>C (p.Gln678Pro) c.1886A>C (p.Gln629Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
21 | g.43417061T= | CA2391216310 | SIK1 | c.2033A= (p.Gln678=) c.1886A= (p.Gln629=) | |
21 | g.43417061_43417062delinsTG | CA2391216309 | SIK1 | c.2032_2033delinsCA (p.Gln678=) c.1885_1886delinsCA (p.Gln629=) | |
21 | g.43417062G>A | CA410606786 | SIK1 | c.2032C>T (p.Gln678Ter) c.1885C>T (p.Gln629Ter) | |
21 | g.43417062G>C | CA410606787 | SIK1 | c.2032C>G (p.Gln678Glu) c.1885C>G (p.Gln629Glu) | |
21 | g.43417062G>T | CA410606788 | SIK1 | c.2032C>A (p.Gln678Lys) c.1885C>A (p.Gln629Lys) | |
21 | g.43417067dup | CA2832578028 | SIK1 | c.2032dup (p.Gln678ProfsTer13) c.1885dup (p.Gln629ProfsTer13) | |
21 | g.43417067del | CA321324532 | SIK1 | c.2032del (p.Gln678SerfsTer8) c.1885del (p.Gln629SerfsTer8) | gnomAD v4 |
21 | g.43417064G>A | CA410606789 | SIK1 | c.2030C>T (p.Pro677Leu) c.1883C>T (p.Pro628Leu) | |
21 | g.43417064G>C | CA410606791 | SIK1 | c.2030C>G (p.Pro677Arg) c.1883C>G (p.Pro628Arg) | |
21 | g.43417064G>T | CA410606790 | SIK1 | c.2030C>A (p.Pro677His) c.1883C>A (p.Pro628His) | |
21 | g.43417065G>A | CA410606792 | SIK1 | c.2029C>T (p.Pro677Ser) c.1882C>T (p.Pro628Ser) | COSMIC |
21 | g.43417065G>C | CA410606793 | SIK1 | c.2029C>G (p.Pro677Ala) c.1882C>G (p.Pro628Ala) | |
21 | g.43417065G>T | CA410606794 | SIK1 | c.2029C>A (p.Pro677Thr) c.1882C>A (p.Pro628Thr) | |
21 | g.43417066G>A | CA749585003 | SIK1 | c.2028C>T (p.Ala676=) c.1881C>T (p.Ala627=) | dbSNP |
21 | g.43417066G= | CA2391216311 | SIK1 | c.2028C= (p.Ala676=) c.1881C= (p.Ala627=) | |
21 | g.43417067G>A | CA410606795 | SIK1 | c.2027C>T (p.Ala676Val) c.1880C>T (p.Ala627Val) | dbSNP |
21 | g.43417067G>C | CA410606796 | SIK1 | c.2027C>G (p.Ala676Gly) c.1880C>G (p.Ala627Gly) | |
21 | g.43417067G= | CA2391216312 | SIK1 | c.2027C= (p.Ala676=) c.1880C= (p.Ala627=) | |
21 | g.43417067G>T | CA410606797 | SIK1 | c.2027C>A (p.Ala676Asp) c.1880C>A (p.Ala627Asp) | |
21 | g.43417068C>A | CA410606798 | SIK1 | c.2026G>T (p.Ala676Ser) c.1879G>T (p.Ala627Ser) | |
21 | g.43417068C>G | CA410606799 | SIK1 | c.2026G>C (p.Ala676Pro) c.1879G>C (p.Ala627Pro) | |
21 | g.43417068C>T | CA410606800 | SIK1 | c.2026G>A (p.Ala676Thr) c.1879G>A (p.Ala627Thr) | ClinVar |
21 | g.43417069C>A | CA410606801 | SIK1 | c.2025G>T (p.Gln675His) c.1878G>T (p.Gln626His) | |
21 | g.43417069C>G | CA410606802 | SIK1 | c.2025G>C (p.Gln675His) c.1878G>C (p.Gln626His) | |
21 | g.43417070T>A | CA410606804 | SIK1 | c.2024A>T (p.Gln675Leu) c.1877A>T (p.Gln626Leu) | |
21 | g.43417070T>C | CA410606805 | SIK1 | c.2024A>G (p.Gln675Arg) c.1877A>G (p.Gln626Arg) | |
21 | g.43417070T>G | CA410606803 | SIK1 | c.2024A>C (p.Gln675Pro) c.1877A>C (p.Gln626Pro) | |
21 | g.43417071G>A | CA410606807 | SIK1 | c.2023C>T (p.Gln675Ter) c.1876C>T (p.Gln626Ter) | dbSNP |
21 | g.43417071G>C | CA410606806 | SIK1 | c.2023C>G (p.Gln675Glu) c.1876C>G (p.Gln626Glu) | dbSNP |
21 | g.43417071G>T | CA410606808 | SIK1 | c.2023C>A (p.Gln675Lys) c.1876C>A (p.Gln626Lys) | |
21 | g.43417072G>T | CA2737820006 | SIK1 | c.2022C>A (p.Ser674=) c.1875C>A (p.Ser625=) | dbSNP |
21 | g.43417073G>A | CA410606809 | SIK1 | c.2021C>T (p.Ser674Phe) c.1874C>T (p.Ser625Phe) | |
21 | g.43417073G>C | CA410606811 | SIK1 | c.2021C>G (p.Ser674Cys) c.1874C>G (p.Ser625Cys) | |
21 | g.43417073G= | CA2391216313 | SIK1 | c.2021C= (p.Ser674=) c.1874C= (p.Ser625=) | |
21 | g.43417073G>T | CA410606810 | SIK1 | c.2021C>A (p.Ser674Tyr) c.1874C>A (p.Ser625Tyr) | dbSNP gnomAD v4 |
21 | g.43417074A>C | CA410606812 | SIK1 | c.2020T>G (p.Ser674Ala) c.1873T>G (p.Ser625Ala) | |
21 | g.43417074A>G | CA410606813 | SIK1 | c.2020T>C (p.Ser674Pro) c.1873T>C (p.Ser625Pro) | |
21 | g.43417074A>T | CA410606814 | SIK1 | c.2020T>A (p.Ser674Thr) c.1873T>A (p.Ser625Thr) | |
21 | g.43417074_43417084delinsAGCAGCCGGGT | CA2391216314 | SIK1 | c.2010_2020delinsACCCGGCTGCT (p.Ala670=) c.1863_1873delinsACCCGGCTGCT (p.Ala621=) | |
21 | g.43417075G>A | CA749585012 | SIK1 | c.2019C>T (p.Cys673=) c.1872C>T (p.Cys624=) | dbSNP |
21 | g.43417075G>C | CA410606815 | SIK1 | c.2019C>G (p.Cys673Trp) c.1872C>G (p.Cys624Trp) | |
21 | g.43417075G= | CA2391216315 | SIK1 | c.2019C= (p.Cys673=) c.1872C= (p.Cys624=) | |
21 | g.43417075G>T | CA410606816 | SIK1 | c.2019C>A (p.Cys673Ter) c.1872C>A (p.Cys624Ter) | |
21 | g.43417080_43417089del | CA749585011 | SIK1 | c.2010_2019del (p.Gly672ArgfsTer11) c.1863_1872del (p.Gly623ArgfsTer11) | dbSNP |
21 | g.43417076C>A | CA410606817 | SIK1 | c.2018G>T (p.Cys673Phe) c.1871G>T (p.Cys624Phe) | |
21 | g.43417076C>G | CA410606818 | SIK1 | c.2018G>C (p.Cys673Ser) c.1871G>C (p.Cys624Ser) | |
21 | g.43417076C>T | CA410606819 | SIK1 | c.2018G>A (p.Cys673Tyr) c.1871G>A (p.Cys624Tyr) | |
21 | g.43417077A>C | CA410606820 | SIK1 | c.2017T>G (p.Cys673Gly) c.1870T>G (p.Cys624Gly) | |
21 | g.43417077A>G | CA410606821 | SIK1 | c.2017T>C (p.Cys673Arg) c.1870T>C (p.Cys624Arg) | |
21 | g.43417077A>T | CA410606822 | SIK1 | c.2017T>A (p.Cys673Ser) c.1870T>A (p.Cys624Ser) | |
21 | g.43417077_43417090delinsAGCCGGGTGCAGCG | CA2391216316 | SIK1 | c.2004_2017delinsCGCTGCACCCGGCT (p.Ala668=) c.1857_1870delinsCGCTGCACCCGGCT (p.Ala619=) | |
21 | g.43417078G>C | CA321324533 | SIK1 | c.2016C>G (p.Gly672=) c.1869C>G (p.Gly623=) | ClinVar dbSNP |
21 | g.43417078G= | CA2391216317 | SIK1 | c.2016C= (p.Gly672=) c.1869C= (p.Gly623=) | |
21 | g.43417086_43417098del | CA1139666890 | SIK1 | c.2004_2016del (p.Ala670ProfsTer12) c.1857_1869del (p.Ala621ProfsTer12) | ClinVar dbSNP |
21 | g.43417079C>A | CA410606825 | SIK1 | c.2015G>T (p.Gly672Val) c.1868G>T (p.Gly623Val) | dbSNP |
21 | g.43417079C= | CA2391216318 | SIK1 | c.2015G= (p.Gly672=) c.1868G= (p.Gly623=) | |
21 | g.43417079C>G | CA410606823 | SIK1 | c.2015G>C (p.Gly672Ala) c.1868G>C (p.Gly623Ala) | |
21 | g.43417079C>T | CA410606824 | SIK1 | c.2015G>A (p.Gly672Asp) c.1868G>A (p.Gly623Asp) | |
21 | g.43417080C>A | CA410606826 | SIK1 | c.2014G>T (p.Gly672Cys) c.1867G>T (p.Gly623Cys) | |
21 | g.43417080C= | CA2391216319 | SIK1 | c.2014G= (p.Gly672=) c.1867G= (p.Gly623=) | |
21 | g.43417080C>G | CA410606827 | SIK1 | c.2014G>C (p.Gly672Arg) c.1867G>C (p.Gly623Arg) | ClinVar dbSNP |
21 | g.43417080C>T | CA321324536 | SIK1 | c.2014G>A (p.Gly672Ser) c.1867G>A (p.Gly623Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
21 | g.43417081G>A | CA321324538 | SIK1 | c.2013C>T (p.Pro671=) c.1866C>T (p.Pro622=) | ClinVar dbSNP |
21 | g.43417081G>C | CA2499225951 | SIK1 | c.2013C>G (p.Pro671=) c.1866C>G (p.Pro622=) | ClinVar dbSNP |
21 | g.43417081G= | CA2391216320 | SIK1 | c.2013C= (p.Pro671=) c.1866C= (p.Pro622=) | |
21 | g.43417081G>T | CA321324537 | SIK1 | c.2013C>A (p.Pro671=) c.1866C>A (p.Pro622=) | ClinVar dbSNP |
21 | g.43417083del | CA1022641531 | SIK1 | c.2013del (p.Gly672AlafsTer14) c.1866del (p.Gly623AlafsTer14) | gnomAD v3 gnomAD v4 |
21 | g.43417082G>A | CA321324539 | SIK1 | c.2012C>T (p.Pro671Leu) c.1865C>T (p.Pro622Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
21 | g.43417082G>C | CA410606828 | SIK1 | c.2012C>G (p.Pro671Arg) c.1865C>G (p.Pro622Arg) | |
21 | g.43417082G= | CA2391216321 | SIK1 | c.2012C= (p.Pro671=) c.1865C= (p.Pro622=) | |
21 | g.43417082G>T | CA410606829 | SIK1 | c.2012C>A (p.Pro671His) c.1865C>A (p.Pro622His) | |
21 | g.43417083G>A | CA410606830 | SIK1 | c.2011C>T (p.Pro671Ser) c.1864C>T (p.Pro622Ser) | ClinVar dbSNP |
21 | g.43417083G>C | CA410606831 | SIK1 | c.2011C>G (p.Pro671Ala) c.1864C>G (p.Pro622Ala) | |
21 | g.43417083G= | CA2391216322 | SIK1 | c.2011C= (p.Pro671=) c.1864C= (p.Pro622=) | |
21 | g.43417083G>T | CA410606832 | SIK1 | c.2011C>A (p.Pro671Thr) c.1864C>A (p.Pro622Thr) | |
21 | g.43417085G>A | CA410606835 | SIK1 | c.2009C>T (p.Ala670Val) c.1862C>T (p.Ala621Val) | |
21 | g.43417085G>C | CA410606834 | SIK1 | c.2009C>G (p.Ala670Gly) c.1862C>G (p.Ala621Gly) | |
21 | g.43417085G>T | CA410606833 | SIK1 | c.2009C>A (p.Ala670Glu) c.1862C>A (p.Ala621Glu) | |
21 | g.43417086C>A | CA410606836 | SIK1 | c.2008G>T (p.Ala670Ser) c.1861G>T (p.Ala621Ser) | |
21 | g.43417086C>G | CA410606837 | SIK1 | c.2008G>C (p.Ala670Pro) c.1861G>C (p.Ala621Pro) | |
21 | g.43417086C>T | CA410606838 | SIK1 | c.2008G>A (p.Ala670Thr) c.1861G>A (p.Ala621Thr) | gnomAD v4 |
21 | g.43417088G>A | CA410606839 | SIK1 | c.2006C>T (p.Ala669Val) c.1859C>T (p.Ala620Val) | dbSNP |
21 | g.43417088G>C | CA410606840 | SIK1 | c.2006C>G (p.Ala669Gly) c.1859C>G (p.Ala620Gly) | |
21 | g.43417088G= | CA2391216323 | SIK1 | c.2006C= (p.Ala669=) c.1859C= (p.Ala620=) | |
21 | g.43417088G>T | CA410606841 | SIK1 | c.2006C>A (p.Ala669Asp) c.1859C>A (p.Ala620Asp) | |
21 | g.43417089C>A | CA410606842 | SIK1 | c.2005G>T (p.Ala669Ser) c.1858G>T (p.Ala620Ser) | |
21 | g.43417089C= | CA2391216324 | SIK1 | c.2005G= (p.Ala669=) c.1858G= (p.Ala620=) | |
21 | g.43417089C>G | CA410606843 | SIK1 | c.2005G>C (p.Ala669Pro) c.1858G>C (p.Ala620Pro) | |
21 | g.43417089C>T | CA321324540 | SIK1 | c.2005G>A (p.Ala669Thr) c.1858G>A (p.Ala620Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
21 | g.43417090G>A | CA749585029 | SIK1 | c.2004C>T (p.Ala668=) c.1857C>T (p.Ala619=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
21 | g.43417090G= | CA2391216325 | SIK1 | c.2004C= (p.Ala668=) c.1857C= (p.Ala619=) | |
21 | g.43417091G>A | CA410606844 | SIK1 | c.2003C>T (p.Ala668Val) c.1856C>T (p.Ala619Val) | gnomAD v4 |
21 | g.43417091G>C | CA410606845 | SIK1 | c.2003C>G (p.Ala668Gly) c.1856C>G (p.Ala619Gly) | |
21 | g.43417091G= | CA2391216326 | SIK1 | c.2003C= (p.Ala668=) c.1856C= (p.Ala619=) | |
21 | g.43417091G>T | CA410606846 | SIK1 | c.2003C>A (p.Ala668Asp) c.1856C>A (p.Ala619Asp) | dbSNP |
21 | g.43417092C>A | CA321324543 | SIK1 | c.2002G>T (p.Ala668Ser) c.1855G>T (p.Ala619Ser) | dbSNP |
21 | g.43417092C= | CA2391216327 | SIK1 | c.2002G= (p.Ala668=) c.1855G= (p.Ala619=) | |
21 | g.43417092C>G | CA410606847 | SIK1 | c.2002G>C (p.Ala668Pro) c.1855G>C (p.Ala619Pro) | |
21 | g.43417092C>T | CA410606848 | SIK1 | c.2002G>A (p.Ala668Thr) c.1855G>A (p.Ala619Thr) | |
21 | g.43417093C= | CA2391216328 | SIK1 | c.2001G= (p.Pro667=) c.1854G= (p.Pro618=) | |
21 | g.43417093C>T | CA321324547 | SIK1 | c.2001G>A (p.Pro667=) c.1854G>A (p.Pro618=) | ClinVar dbSNP |
21 | g.43417094G>A | CA321324553 | SIK1 | c.2000C>T (p.Pro667Leu) c.1853C>T (p.Pro618Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
21 | g.43417094G>C | CA410606849 | SIK1 | c.2000C>G (p.Pro667Arg) c.1853C>G (p.Pro618Arg) | |
21 | g.43417094G= | CA2391216329 | SIK1 | c.2000C= (p.Pro667=) c.1853C= (p.Pro618=) | |
21 | g.43417094G>T | CA410606850 | SIK1 | c.2000C>A (p.Pro667Gln) c.1853C>A (p.Pro618Gln) | |
21 | g.43417095G>A | CA410606851 | SIK1 | c.1999C>T (p.Pro667Ser) c.1852C>T (p.Pro618Ser) | |
21 | g.43417095G>C | CA410606852 | SIK1 | c.1999C>G (p.Pro667Ala) c.1852C>G (p.Pro618Ala) | dbSNP |
21 | g.43417095G= | CA2391216330 | SIK1 | c.1999C= (p.Pro667=) c.1852C= (p.Pro618=) | |
21 | g.43417095G>T | CA321324556 | SIK1 | c.1999C>A (p.Pro667Thr) c.1852C>A (p.Pro618Thr) | ClinVar dbSNP |
21 | g.43417096G>C | CA410606853 | SIK1 | c.1998C>G (p.His666Gln) c.1851C>G (p.His617Gln) | |
21 | g.43417096G>T | CA410606854 | SIK1 | c.1998C>A (p.His666Gln) c.1851C>A (p.His617Gln) | |
21 | g.43417097T>A | CA410606855 | SIK1 | c.1997A>T (p.His666Leu) c.1850A>T (p.His617Leu) | |
21 | g.43417097T>C | CA410606856 | SIK1 | c.1997A>G (p.His666Arg) c.1850A>G (p.His617Arg) | |
21 | g.43417097T>G | CA410606857 | SIK1 | c.1997A>C (p.His666Pro) c.1850A>C (p.His617Pro) | |
21 | g.43417098G>A | CA410606859 | SIK1 | c.1996C>T (p.His666Tyr) c.1849C>T (p.His617Tyr) | |
21 | g.43417098G>C | CA410606860 | SIK1 | c.1996C>G (p.His666Asp) c.1849C>G (p.His617Asp) | |
21 | g.43417098G>T | CA410606858 | SIK1 | c.1996C>A (p.His666Asn) c.1849C>A (p.His617Asn) | |
21 | g.43417099G>A | CA749585049 | SIK1 | c.1995C>T (p.His665=) c.1848C>T (p.His616=) | dbSNP |
21 | g.43417099G>C | CA410606862 | SIK1 | c.1995C>G (p.His665Gln) c.1848C>G (p.His616Gln) | |
21 | g.43417099G= | CA2391216331 | SIK1 | c.1995C= (p.His665=) c.1848C= (p.His616=) | |
21 | g.43417099G>T | CA410606861 | SIK1 | c.1995C>A (p.His665Gln) c.1848C>A (p.His616Gln) | |
21 | g.43417100T>A | CA410606863 | SIK1 | c.1994A>T (p.His665Leu) c.1847A>T (p.His616Leu) | |
21 | g.43417100T>C | CA410606864 | SIK1 | c.1994A>G (p.His665Arg) c.1847A>G (p.His616Arg) | dbSNP |
21 | g.43417100T>G | CA410606865 | SIK1 | c.1994A>C (p.His665Pro) c.1847A>C (p.His616Pro) | |
21 | g.43417100T= | CA2391216332 | SIK1 | c.1994A= (p.His665=) c.1847A= (p.His616=) | |
21 | g.43417101G>A | CA410606866 | SIK1 | c.1993C>T (p.His665Tyr) c.1846C>T (p.His616Tyr) | gnomAD v4 |
21 | g.43417101G>C | CA410606867 | SIK1 | c.1993C>G (p.His665Asp) c.1846C>G (p.His616Asp) | |
21 | g.43417101G>T | CA410606868 | SIK1 | c.1993C>A (p.His665Asn) c.1846C>A (p.His616Asn) | |
21 | g.43417102C>A | CA410606869 | SIK1 | c.1992G>T (p.Gln664His) c.1845G>T (p.Gln615His) | |
21 | g.43417102C= | CA2391216333 | SIK1 | c.1992G= (p.Gln664=) c.1845G= (p.Gln615=) | |
21 | g.43417102C>G | CA410606870 | SIK1 | c.1992G>C (p.Gln664His) c.1845G>C (p.Gln615His) | |
21 | g.43417102C>T | CA658799457 | SIK1 | c.1992G>A (p.Gln664=) c.1845G>A (p.Gln615=) | ClinVar dbSNP |
21 | g.43417103T>A | CA410606871 | SIK1 | c.1991A>T (p.Gln664Leu) c.1844A>T (p.Gln615Leu) | |
21 | g.43417103T>C | CA410606872 | SIK1 | c.1991A>G (p.Gln664Arg) c.1844A>G (p.Gln615Arg) | ClinVar dbSNP |
21 | g.43417103T>G | CA410606873 | SIK1 | c.1991A>C (p.Gln664Pro) c.1844A>C (p.Gln615Pro) | |
21 | g.43417104G>A | CA410606876 | SIK1 | c.1990C>T (p.Gln664Ter) c.1843C>T (p.Gln615Ter) | ClinVar dbSNP gnomAD v4 |
21 | g.43417104G>C | CA410606874 | SIK1 | c.1990C>G (p.Gln664Glu) c.1843C>G (p.Gln615Glu) | |
21 | g.43417104G= | CA2391216334 | SIK1 | c.1990C= (p.Gln664=) c.1843C= (p.Gln615=) | |
21 | g.43417104G>T | CA410606875 | SIK1 | c.1990C>A (p.Gln664Lys) c.1843C>A (p.Gln615Lys) | |
21 | g.43417105T>A | CA410606877 | SIK1 | c.1989A>T (p.Leu663Phe) c.1842A>T (p.Leu614Phe) | |
21 | g.43417105T>G | CA321324564 | SIK1 | c.1989A>C (p.Leu663Phe) c.1842A>C (p.Leu614Phe) | ClinVar dbSNP gnomAD v4 |
21 | g.43417105T= | CA2391216335 | SIK1 | c.1989A= (p.Leu663=) c.1842A= (p.Leu614=) | |
21 | g.43417106A= | CA2391216336 | SIK1 | c.1988T= (p.Leu663=) c.1841T= (p.Leu614=) | |
21 | g.43417106A>C | CA410606878 | SIK1 | c.1988T>G (p.Leu663Ter) c.1841T>G (p.Leu614Ter) | |
21 | g.43417106A>G | CA410606879 | SIK1 | c.1988T>C (p.Leu663Ser) c.1841T>C (p.Leu614Ser) | ClinVar dbSNP |
21 | g.43417106A>T | CA410606880 | SIK1 | c.1988T>A (p.Leu663Ter) c.1841T>A (p.Leu614Ter) | |
21 | g.43417107A>C | CA410606881 | SIK1 | c.1987T>G (p.Leu663Val) c.1840T>G (p.Leu614Val) | |
21 | g.43417107A>T | CA410606882 | SIK1 | c.1987T>A (p.Leu663Ile) c.1840T>A (p.Leu614Ile) | |
21 | g.43417108C>A | CA410606883 | SIK1 | c.1986G>T (p.Gln662His) c.1839G>T (p.Gln613His) | |
21 | g.43417108C>G | CA410606884 | SIK1 | c.1986G>C (p.Gln662His) c.1839G>C (p.Gln613His) | |
21 | g.43417108C>T | CA2818014412 | SIK1 | c.1986G>A (p.Gln662=) c.1839G>A (p.Gln613=) | |
21 | g.43417109T>A | CA410606885 | SIK1 | c.1985A>T (p.Gln662Leu) c.1838A>T (p.Gln613Leu) | |
21 | g.43417109T>C | CA410606886 | SIK1 | c.1985A>G (p.Gln662Arg) c.1838A>G (p.Gln613Arg) | |
21 | g.43417109T>G | CA410606887 | SIK1 | c.1985A>C (p.Gln662Pro) c.1838A>C (p.Gln613Pro) | |
21 | g.43417110G>A | CA410606889 | SIK1 | c.1984C>T (p.Gln662Ter) c.1837C>T (p.Gln613Ter) | |
21 | g.43417110G>C | CA410606890 | SIK1 | c.1984C>G (p.Gln662Glu) c.1837C>G (p.Gln613Glu) | |
21 | g.43417110G>T | CA410606888 | SIK1 | c.1984C>A (p.Gln662Lys) c.1837C>A (p.Gln613Lys) | |
21 | g.43417111G>A | CA321324566 | SIK1 | c.1983C>T (p.Leu661=) c.1836C>T (p.Leu612=) | dbSNP |
21 | g.43417111G= | CA2391216337 | SIK1 | c.1983C= (p.Leu661=) c.1836C= (p.Leu612=) | |
21 | g.43417112A>C | CA410606891 | SIK1 | c.1982T>G (p.Leu661Arg) c.1835T>G (p.Leu612Arg) | |
21 | g.43417112A>G | CA410606892 | SIK1 | c.1982T>C (p.Leu661Pro) c.1835T>C (p.Leu612Pro) | |
21 | g.43417112A>T | CA410606893 | SIK1 | c.1982T>A (p.Leu661His) c.1835T>A (p.Leu612His) | |
21 | g.43417113G>A | CA410606894 | SIK1 | c.1981C>T (p.Leu661Phe) c.1834C>T (p.Leu612Phe) | ClinVar dbSNP |
21 | g.43417113G>C | CA410606895 | SIK1 | c.1981C>G (p.Leu661Val) c.1834C>G (p.Leu612Val) | |
21 | g.43417113G>T | CA410606896 | SIK1 | c.1981C>A (p.Leu661Ile) c.1834C>A (p.Leu612Ile) | |
21 | g.43417114C>T | CA2654732713 | SIK1 | c.1980G>A (p.Leu660=) c.1833G>A (p.Leu611=) | gnomAD v4 |
21 | g.43417115A>C | CA410606897 | SIK1 | c.1979T>G (p.Leu660Arg) c.1832T>G (p.Leu611Arg) | |
21 | g.43417115A>G | CA410606898 | SIK1 | c.1979T>C (p.Leu660Pro) c.1832T>C (p.Leu611Pro) | |
21 | g.43417115A>T | CA410606899 | SIK1 | c.1979T>A (p.Leu660Gln) c.1832T>A (p.Leu611Gln) | |
21 | g.43417116G>C | CA410606900 | SIK1 | c.1978C>G (p.Leu660Val) c.1831C>G (p.Leu611Val) | |
21 | g.43417116G>T | CA410606901 | SIK1 | c.1978C>A (p.Leu660Met) c.1831C>A (p.Leu611Met) | |
21 | g.43417117C>A | CA410606902 | SIK1 | c.1977G>T (p.Arg659Ser) c.1830G>T (p.Arg610Ser) | |
21 | g.43417117C>G | CA410606903 | SIK1 | c.1977G>C (p.Arg659Ser) c.1830G>C (p.Arg610Ser) | |
21 | g.43417118C>A | CA410606906 | SIK1 | c.1977-1G>T (n.1977-1G>T) c.1830-1G>T (n.1830-1G>T) | |
21 | g.43417118C>G | CA410606905 | SIK1 | c.1977-1G>C (n.1977-1G>C) c.1830-1G>C (n.1830-1G>C) | |
21 | g.43417118C>T | CA410606904 | SIK1 | c.1977-1G>A (n.1977-1G>A) c.1830-1G>A (n.1830-1G>A) | |
21 | g.43417119T>A | CA410606907 | SIK1 | c.1977-2A>T (n.1977-2A>T) c.1830-2A>T (n.1830-2A>T) | |
21 | g.43417119T>C | CA410606908 | SIK1 | c.1977-2A>G (n.1977-2A>G) c.1830-2A>G (n.1830-2A>G) | |
21 | g.43417119T>G | CA410606909 | SIK1 | c.1977-2A>C (n.1977-2A>C) c.1830-2A>C (n.1830-2A>C) |